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66091009: Congenital disease (disorder)

Status: current, Defined. Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
109766011 Congenital disease en Synonym Active Case insensitive SNOMED CT core
109767019 Congenital disease, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
3011638011 Foetal developmental abnormality en Synonym Inactive Initial character case insensitive SNOMED CT core
500308011 Congenital disorder en Synonym Active Case insensitive SNOMED CT core
500309015 Congenital abnormality en Synonym Inactive Initial character case insensitive SNOMED CT core
500310013 Fetal developmental abnormality en Synonym Inactive Initial character case insensitive SNOMED CT core
805666017 Congenital disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core
816061000036117 Foetal developmental abnormality en Synonym Inactive Initial character case insensitive SNOMED Clinical Terms Australian extension

9673 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital disease Is a Disease true Inferred relationship Some
Congenital disease Occurrence Congenital true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital deficiency of intrinsic factor Is a True Congenital disease Inferred relationship Some
Biermer's congenital pernicious anaemia Is a True Congenital disease Inferred relationship Some
Autosomal recessive sideroblastic anaemia Is a True Congenital disease Inferred relationship Some
Congenital diverticulitis of small intestine Is a True Congenital disease Inferred relationship Some
Median nodule of upper lip Is a True Congenital disease Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Is a False Congenital disease Inferred relationship Some
Congenital lethal erythroderma Is a True Congenital disease Inferred relationship Some
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Is a True Congenital disease Inferred relationship Some
Congenital chalasia of oesophagus Is a True Congenital disease Inferred relationship Some
Congenital cyst of aryepiglottic fold Is a False Congenital disease Inferred relationship Some
Congenital hypogonadotropic hypogonadism Is a True Congenital disease Inferred relationship Some
Congenital atrophy of optic nerve Is a True Congenital disease Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis Is a True Congenital disease Inferred relationship Some
Pigmented paravenous retinochoroidal atrophy Is a True Congenital disease Inferred relationship Some
P2Y12 defect Is a True Congenital disease Inferred relationship Some
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunisation Is a True Congenital disease Inferred relationship Some
Congenital myotonia Is a True Congenital disease Inferred relationship Some
Congenital syringomyelia Is a False Congenital disease Inferred relationship Some
Eng Strom syndrome Is a True Congenital disease Inferred relationship Some
Pure mitochondrial myopathy Is a True Congenital disease Inferred relationship Some
Congenital secondary hydronephrosis Is a False Congenital disease Inferred relationship Some
Congenital dacryocoele Is a True Congenital disease Inferred relationship Some
Congenital malposition of eyelid Is a False Congenital disease Inferred relationship Some
Dystopia canthorum Is a False Congenital disease Inferred relationship Some
Platelet type pseudo-von Willebrand disease Is a False Congenital disease Inferred relationship Some
Asexual dwarfism Is a True Congenital disease Inferred relationship Some
Platelet storage pool defect Is a True Congenital disease Inferred relationship Some
Familial anetoderma Is a True Congenital disease Inferred relationship Some
Hereditary haemoglobinopathy Is a True Congenital disease Inferred relationship Some
Congenital cyst of orbit Is a False Congenital disease Inferred relationship Some
Hereditary disorder of endocrine system Is a False Congenital disease Inferred relationship Some
Carney Stratakis syndrome Is a True Congenital disease Inferred relationship Some
Congenital hydrothorax Is a False Congenital disease Inferred relationship Some
Progressive supranuclear palsy Is a False Congenital disease Inferred relationship Some
Congenital porencephalic cyst Is a False Congenital disease Inferred relationship Some
Congenital anomaly of vagina Is a False Congenital disease Inferred relationship Some
Congenital anomaly of vulva Is a False Congenital disease Inferred relationship Some
Congenital anomaly of mother complicating pregnancy Is a False Congenital disease Inferred relationship Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome Is a True Congenital disease Inferred relationship Some
Neonatal intestinal perforation co-occurrent and due to in utero intraluminal obstruction Is a False Congenital disease Inferred relationship Some
2-methyl-3-hydroxybutyric aciduria Is a False Congenital disease Inferred relationship Some
Congenital thrombocytopenia Is a True Congenital disease Inferred relationship Some
Congenital cardiovascular disorder Is a True Congenital disease Inferred relationship Some
Congenital keratoderma Is a True Congenital disease Inferred relationship Some
Keratosis pilaris with ichthyosis and deafness Is a False Congenital disease Inferred relationship Some
Congenital ichthyosiform erythroderma Is a True Congenital disease Inferred relationship Some
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Is a False Congenital disease Inferred relationship Some
Palmoplantar keratoderma Nagashima type Is a False Congenital disease Inferred relationship Some
Autosomal dominant congenital benign spinal muscular atrophy Is a True Congenital disease Inferred relationship Some
Charcot-Marie-Tooth disease type 4 Is a True Congenital disease Inferred relationship Some
Combined pancreatic lipase and colipase deficiency Is a True Congenital disease Inferred relationship Some
Congenital trigeminal anaesthesia Is a True Congenital disease Inferred relationship Some
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome Is a True Congenital disease Inferred relationship Some
Spectrin-associated autosomal recessive cerebellar ataxia Is a True Congenital disease Inferred relationship Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome Is a True Congenital disease Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Is a True Congenital disease Inferred relationship Some
Familial nasal acilia Is a True Congenital disease Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a False Congenital disease Inferred relationship Some
Hypermethioninaemia due to deficiency of glycine N-methyltransferase Is a True Congenital disease Inferred relationship Some
Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase Is a True Congenital disease Inferred relationship Some
Erythema palmare hereditarium Is a True Congenital disease Inferred relationship Some
Myosclerosis Is a True Congenital disease Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome Is a False Congenital disease Inferred relationship Some
Action myoclonus renal failure syndrome Is a True Congenital disease Inferred relationship Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Is a True Congenital disease Inferred relationship Some
Familial focal epilepsy with variable foci Is a True Congenital disease Inferred relationship Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Congenital disease Inferred relationship Some
Autosomal dominant slowed nerve conduction velocity Is a True Congenital disease Inferred relationship Some
Fundus albipunctatus Is a True Congenital disease Inferred relationship Some
Inherited acute myeloid leukaemia Associated with True Congenital disease Inferred relationship Some 2
Striate palmoplantar keratoderma Is a False Congenital disease Inferred relationship Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Is a True Congenital disease Inferred relationship Some
Focal palmoplantar and gingival keratoderma Is a False Congenital disease Inferred relationship Some
Muscle filaminopathy Is a True Congenital disease Inferred relationship Some
Myopathy with hexagonally cross-linked tubular arrays Is a True Congenital disease Inferred relationship Some
Biallelic RPE65 mutation associated retinal dystrophy Is a True Congenital disease Inferred relationship Some
Spheroid body myopathy Is a True Congenital disease Inferred relationship Some
Rolandic epilepsy, speech dyspraxia syndrome Is a True Congenital disease Inferred relationship Some
Kandori fleck retina syndrome Is a False Congenital disease Inferred relationship Some
Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency Is a True Congenital disease Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome Is a False Congenital disease Inferred relationship Some
Congenital cyst of larynx Is a True Congenital disease Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Is a False Congenital disease Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Is a False Congenital disease Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Is a False Congenital disease Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Is a False Congenital disease Inferred relationship Some
Cyanotic congenital heart disease Is a False Congenital disease Inferred relationship Some
Metabolic myopathy due to lactate transporter defect Is a True Congenital disease Inferred relationship Some
X-linked non progressive cerebellar ataxia Is a False Congenital disease Inferred relationship Some
X-linked distal spinal muscular atrophy type 3 Is a False Congenital disease Inferred relationship Some
XTE syndrome Is a False Congenital disease Inferred relationship Some
Congenital pes cavus Is a False Congenital disease Inferred relationship Some
Congenital varus deformity of foot Is a False Congenital disease Inferred relationship Some
Congenital obstruction of ureteral orifice Is a False Congenital disease Inferred relationship Some
Epidermoid cyst of spleen Is a False Congenital disease Inferred relationship Some
Family history of congenital disease Associated finding False Congenital disease Inferred relationship Some 1
FH: Anencephaly Associated finding False Congenital disease Inferred relationship Some
Congenital talipes equinus Is a False Congenital disease Inferred relationship Some
Congenital talipes calcaneus Is a False Congenital disease Inferred relationship Some
Congenital vertical talus Is a False Congenital disease Inferred relationship Some
Congenital positional talipes Is a False Congenital disease Inferred relationship Some

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